Skip to main content

1 Result(s)

within Mitsuhiro Kometani Remove this filter Biomedicine Remove this filter

and

  1. No Access

    Article

    Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II

    Camurati–Engelmann disease (CED) is an autosomal dominant bone dysplasia characterized by progressive hyperostosis of the skull base and diaphyses of the long bones. CED is further divided into two subtypes, C...

    Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, Yael Wilnai… in Journal of Human Genetics (2024)